Back to Search Start Over

Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.

Authors :
Zhou, Hongbin
Kuermanhan, Ahan
Zhang, Zhihua
Wang, Wenjing
Dong, Jie
Zhou, Zhou
Mu, Jian
Zhao, Lin
Wang, Jian
Li, Bing
Chen, Biaobang
Source :
International Journal of Pediatric Otorhinolaryngology. Oct2019, Vol. 125, p128-132. 5p.
Publication Year :
2019

Abstract

Millions of people around the world are plagued by hearing loss. More than 50% of congenital or pre-lingual deafness is associated with genetic factors and has highly genetic heterogeneity. To date, although hundreds of genes have been found to be implicated in non-syndromic deafness, there are still lots of genes or loci that we need to verify. In this study, we performed target sequencing and Sanger sequencing in a Kazakh consanguineous family with autosomal recessive non-syndromic hearing loss. Following that, functional and structural studies predicted the pathogenic effect of novel mutations by use of the online tools. We identified a novel homozygous mutation p.R3191C in MYO15A gene causing deafness in this family. The mutation p.R3191C co-segregated with the disease phenotype in this family and was not present in any public databases. Automatic tools predict that the novel mutation makes a great impact on the function and structure of MYO15A protein. This is a novel mutation of MYO15A causing deafness and also the first report of MYO15A mutations causing deafness in the Kazakh families. This finding expanded the spectrum of MYO15A mutations, making it more precise for future genetic diagnosis in patients with deafness. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01655876
Volume :
125
Database :
Academic Search Index
Journal :
International Journal of Pediatric Otorhinolaryngology
Publication Type :
Academic Journal
Accession number :
138457787
Full Text :
https://doi.org/10.1016/j.ijporl.2019.06.018